285 related articles for article (PubMed ID: 32197073)
1. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Mattioli F; Hayot G; Drouot N; Isidor B; Courraud J; Hinckelmann MV; Mau-Them FT; Sellier C; Goldman A; Telegrafi A; Boughton A; Gamble C; Moutton S; Quartier A; Jean N; Van Ness P; Grotto S; Nambot S; Douglas G; Si YC; Chelly J; Shad Z; Kaplan E; Dineen R; Golzio C; Charlet-Berguerand N; Mandel JL; Piton A
Am J Hum Genet; 2020 Apr; 106(4):438-452. PubMed ID: 32197073
[TBL] [Abstract][Full Text] [Related]
2. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M; Drouot N; MacLennan SC; Wessels MW; Krygier M; Pavinato L; Telegrafi A; de Man SA; van Slegtenhorst M; Iacomino M; Madia F; Scudieri P; Uva P; Giacomini T; Nobile G; Mancardi MM; Balagura G; Galloni GB; Verrotti A; Umair M; Khan A; Liebelt J; Schmidts M; Langer T; Brusco A; Lipska-Ziętkiewicz BS; Saris JJ; Charlet-Berguerand N; Zara F; Striano P; Piton A
Hum Mutat; 2022 Sep; 43(9):1299-1313. PubMed ID: 35607920
[TBL] [Abstract][Full Text] [Related]
3. NOVA2-mediated RNA regulation is required for axonal pathfinding during development.
Saito Y; Miranda-Rottmann S; Ruggiu M; Park CY; Fak JJ; Zhong R; Duncan JS; Fabella BA; Junge HJ; Chen Z; Araya R; Fritzsch B; Hudspeth AJ; Darnell RB
Elife; 2016 May; 5():. PubMed ID: 27223325
[TBL] [Abstract][Full Text] [Related]
4. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
[TBL] [Abstract][Full Text] [Related]
5. Differential NOVA2-Mediated Splicing in Excitatory and Inhibitory Neurons Regulates Cortical Development and Cerebellar Function.
Saito Y; Yuan Y; Zucker-Scharff I; Fak JJ; Jereb S; Tajima Y; Licatalosi DD; Darnell RB
Neuron; 2019 Feb; 101(4):707-720.e5. PubMed ID: 30638744
[TBL] [Abstract][Full Text] [Related]
6. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S; Nizon M; Isidor B; Stegmann A; van Jaarsveld RH; van Gassen KL; van der Smagt JJ; Volker-Touw CML; Holwerda SJB; Terhal PA; Schuhmann S; Vasileiou G; Khalifa M; Nugud AA; Yasaei H; Ousager LB; Brasch-Andersen C; Deb W; Besnard T; Simon MEH; Amsterdam KH; Verbeek NE; Matalon D; Dykzeul N; White S; Spiteri E; Devriendt K; Boogaerts A; Willemsen M; Brunner HG; Sinnema M; De Vries BBA; Gerkes EH; Pfundt R; Izumi K; Krantz ID; Xu ZL; Murrell JR; Valenzuela I; Cusco I; Rovira-Moreno E; Yang Y; Bizaoui V; Patat O; Faivre L; Tran-Mau-Them F; Vitobello A; Denommé-Pichon AS; Philippe C; Bezieau S; Cogné B
Genet Med; 2022 Aug; 24(8):1774-1780. PubMed ID: 35567594
[TBL] [Abstract][Full Text] [Related]
7. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Kreienkamp HJ; Wagner M; Weigand H; McConkie-Rossell A; McDonald M; Keren B; Mignot C; Gauthier J; Soucy JF; Michaud JL; Dumas M; Smith R; Löbel U; Hempel M; Kubisch C; Denecke J; Campeau PM; Bain JM; Lessel D
Hum Genet; 2022 Feb; 141(2):257-272. PubMed ID: 34907471
[TBL] [Abstract][Full Text] [Related]
8. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
9. Gene Expression Profiles Controlled by the Alternative Splicing Factor Nova2 in Endothelial Cells.
Belloni E; Di Matteo A; Pradella D; Vacca M; Wyatt CDR; Alfieri R; Maffia A; Sabbioneda S; Ghigna C
Cells; 2019 Nov; 8(12):. PubMed ID: 31771184
[TBL] [Abstract][Full Text] [Related]
10. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK
Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333
[TBL] [Abstract][Full Text] [Related]
11. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.
Heinzen EL; Yoon W; Tate SK; Sen A; Wood NW; Sisodiya SM; Goldstein DB
Am J Hum Genet; 2007 May; 80(5):876-83. PubMed ID: 17436242
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V; Malintan NT; Llano-Rivas I; Spaeth CG; Efthymiou S; Striano P; Vandrovcova J; Cutrupi MC; Chimenz R; David E; Di Rosa G; Marce-Grau A; Raspall-Chaure M; Martin-Hernandez E; Zara F; Minetti C; ; ; Bello OD; De Zorzi R; Fortuna S; Dauber A; Alkhawaja M; Sultan T; Mankad K; Vitobello A; Thomas Q; Mau-Them FT; Faivre L; Martinez-Azorin F; Prada CE; Macaya A; Kullmann DM; Rothman JE; Krishnakumar SS; Houlden H
Am J Hum Genet; 2019 Apr; 104(4):721-730. PubMed ID: 30929742
[TBL] [Abstract][Full Text] [Related]
13. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT; Davids M; Burke E; Pappas JG; Rosenfeld JA; McCarty AJ; Davis T; Wolfe L; Toro C; Tifft C; Xia F; Stong N; Johnson TK; Warr CG; ; Yamamoto S; Adams DR; Markello TC; Gahl WA; Bellen HJ; Wangler MF; Malicdan MCV
Am J Hum Genet; 2017 Jan; 100(1):128-137. PubMed ID: 28017372
[TBL] [Abstract][Full Text] [Related]
14. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
[TBL] [Abstract][Full Text] [Related]
15. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
[TBL] [Abstract][Full Text] [Related]
16. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
[TBL] [Abstract][Full Text] [Related]
17. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM; Cho MT; Telegrafi A; Wilson A; Brooks S; Botti C; Gowans G; Autullo LA; Krishnamurthy V; Willing MC; Toler TL; Ben-Zev B; Elpeleg O; Shen Y; Retterer K; Monaghan KG; Chung WK
Am J Hum Genet; 2016 Sep; 99(3):728-734. PubMed ID: 27545675
[TBL] [Abstract][Full Text] [Related]
18. Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Ramond F; Dalgliesh C; Grimmel M; Wechsberg O; Vetro A; Guerrini R; FitzPatrick D; Poole RL; Lebrun M; Bayat A; Grasshoff U; Bertrand M; Witt D; Turnpenny PD; Faundes V; Santa María L; Mendoza Fuentes C; Mabe P; Hussain SA; Mullegama SV; Torti E; Oehl-Jaschkowitz B; Salmon LB; Orenstein N; Shahar NR; Hagari O; Bazak L; Hoffjan S; Prada CE; Haack T; Elliott DJ
Genet Med; 2023 Apr; 25(4):100003. PubMed ID: 36549593
[TBL] [Abstract][Full Text] [Related]
19. Nova2 regulates neuronal migration through an RNA switch in disabled-1 signaling.
Yano M; Hayakawa-Yano Y; Mele A; Darnell RB
Neuron; 2010 Jun; 66(6):848-58. PubMed ID: 20620871
[TBL] [Abstract][Full Text] [Related]
20. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M; McEntagart M; Clayton-Smith J; Platzer K; Shukla A; Girisha KM; Kaur A; Kaur P; Pfundt R; Veenstra-Knol H; Mancini GMS; Cappuccio G; Brunetti-Pierri N; Kortüm F; Hempel M; Denecke J; Lehman A; ; Kleefstra T; Stuurman KE; Wilke M; Thompson ML; Bebin EM; Bijlsma EK; Hoffer MJV; Peeters-Scholte C; Slavotinek A; Weiss WA; Yip T; Hodoglugil U; Whittle A; diMonda J; Neira J; Yang S; Kirby A; Pinz H; Lechner R; Sleutels F; Helbig I; McKeown S; Helbig K; Willaert R; Juusola J; Semotok J; Hadonou M; Short J; ; Yachelevich N; Lala S; Fernández-Jaen A; Pelayo JP; Klöckner C; Kamphausen SB; Abou Jamra R; Arelin M; Innes AM; Niskakoski A; Amin S; Williams M; Evans J; Smithson S; Smedley D; de Burca A; Kini U; Delatycki MB; Gallacher L; Yeung A; Pais L; Field M; Martin E; Charles P; Courtin T; Keren B; Iascone M; Cereda A; Poke G; Abadie V; Chalouhi C; Parthasarathy P; Halliday BJ; Robertson SP; Lyonnet S; Amiel J; Gordon CT
Am J Hum Genet; 2021 Jun; 108(6):1138-1150. PubMed ID: 33909992
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
